Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.G127R

BMP6

169 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 61–362UCSCTGF-beta propeptide
TGF_betaaa 411–512UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 6

HGNC Previous Symbol

VGR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001718.6
p.G127R
c.379G>C
Surrounding Variants
1 paper
NM_001718.6
p.G127R
c.379G>A
1 paper
NM_001718.6
p.L129M
c.385C>A
1 paper
NM_001718.6
p.P124L
c.371C>T
1 paper
NM_001718.6
p.S131F
c.392C>T
2 papers
NM_001718.6
p.A132V
c.395C>T
1 paper
NM_001718.6
p.R121C
c.361C>T
2 papers
NM_001718.6
p.P120T
c.358C>A
1 paper
NM_001718.6
p.L134L
c.402C>A
1 paper
NM_001718.6
p.Q118ins1
c.353_354insGCT
2 papers
NM_001718.6
p.Q118L
c.353A>T
1 paper
NM_001718.6
p.Q118_L119insQ
c.352_356ins3
1 paper
NM_001718.6
p.L137M
c.409C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."